A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461189



Internal ID15521254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:6576760..6611525hg38UCSC Ensembl
Innerchr4:6578487..6613252hg19UCSC Ensembl
Innerchr4:6629388..6664153hg18UCSC Ensembl
Innerchr4:6696559..6731324hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3834766
hg1934766
hg1834766
hg1734766
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537615
SamplesHGDP00546
Known GenesMAN2B2
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv461189
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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